| الوصف: |
The aldehyde dehydrogenase superfamily contains NAD(P)+-dependent enzymes that catalyze the oxidation of aldehydes to their corresponding carboxylic acids. Nineteen aldehyde dehydrogenase genes have been identified in the human genome. Mutations in these genes that lead to enzyme inactivation are the molecular basis of several diseases, including microphthalmia/anophthalmia, Sjogren–Larsson syndrome, type II hyperprolinemia, γ-hydroxybutyric aciduria, pyridoxine-dependent seizures, gout, and hyperuricemia, De Barsy syndrome and spastic paraplegia, alcohol-related diseases, cancer, and late-onset Alzheimer’s disease. In addition to these clinical phenotypes, transgenic knockout mouse models have suggested a pivotal role for aldehyde dehydrogenases in physiological processes, such as embryogenesis and development, and in protection against obesity and environmentally induced oxidative damage. Finally, aldehyde dehydrogenases have been shown to be characteristic of cancer stem cells, with high aldehyde dehydrogenase activity relating to cancer prognosis. Collectively, these observations suggest that aldehyde dehydrogenases play crucial roles in the biotransformation of endogenous and exogenous aldehydes that are either toxic or essential for life. |